SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS730882151 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS730882152 PARS2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 75
RS730882153 PARS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 75
RS730882154 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS730882155 NARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS730882156 KITLG Health Risk Pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive
RS730882157 KITLG Health Risk Pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive
RS730882158 PRSS56 Health Risk Likely pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS730882159 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS730882160 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS730882161 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS730882162 PRSS56 Health Risk Likely pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS730882164 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS730882165 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882166 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS730882167 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882168 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882169 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882172 KCNH1 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882173 KCNH1 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882174 KCNH1 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882175 KCNH1 Health Risk Pathogenic/Likely pathogenic Zimmermann-Laband syndrome 1, Inborn genetic diseases
RS730882176 KCNH1 Health Risk Pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS730882177 ATP6V1B2 Health Risk Pathogenic Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 1
RS730882178 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS730882179 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS730882180 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS730882181 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS730882182 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS730882183 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS730882184 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS730882185 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS730882186 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS730882187 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS730882188 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS730882189 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS730882190 COL11A1 Health Risk Pathogenic Fibrochondrogenesis, Fibrochondrogenesis
RS730882191 PITX1 Health Risk Pathogenic Clubfoot, Clubfoot
RS730882192 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS730882193 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis
RS730882194 EMP2 Health Risk Pathogenic Nephrotic syndrome, type 10
RS730882195 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS730882197 FERRY3 Health Risk Pathogenic/Likely pathogenic Hypotonia, Intellectual disability
RS730882198 SPART Health Risk Pathogenic 6 conditions, Troyer syndrome
RS730882199 CYP27A1 Health Risk Conflicting classifications of pathogenicity Regression of motor development with severe dystonia and corresponding basal ganglia lesions, Cholestanol storage disease
RS730882200 ARFGEF2 Health Risk Pathogenic Global developmental delay, Seizure
RS730882201 ARL14EP Health Risk Likely pathogenic Global developmental delay, Abnormal facial shape
RS730882202 CACNA1G Health Risk Likely pathogenic Abnormal facial shape, Hirsutism
RS730882203 DMBX1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS730882204 WDR93 Health Risk Likely pathogenic Autistic spectrum disorder with isolated skills, Autistic spectrum disorder with isolated skills
RS730882205 ZNF526 Health Risk Likely pathogenic Pulmonic stenosis, Noonan-like facies
RS730882206 WDR81 Health Risk Likely pathogenic Hydranencephaly, Neonatal death
RS730882207 EPB41L4A Health Risk Likely pathogenic Failure to thrive, Spastic paraplegia
RS730882208 CTSD Health Risk Likely pathogenic Severe microlissencephaly, Exaggerated startle response
RS730882209 SETX Health Risk Pathogenic/Likely pathogenic 7 conditions, Spinocerebellar ataxia
RS730882210 MATN4 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS730882212 TUBA3E Health Risk Likely pathogenic Primary microcephaly, Seizure
RS730882213 ADAT3;SCAMP4 Health Risk Pathogenic/Likely pathogenic Intellectual disability-strabismus syndrome, Neurodevelopmental disorder with brain abnormalities
RS730882214 PLA2G6 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation
RS730882215 WWOX Health Risk Pathogenic Global developmental delay, Brain atrophy
RS730882216 NUP107 Health Risk Pathogenic/Likely pathogenic Early onset focal segmental glomerulosclerosis, Global developmental delay
RS730882217 CPLANE1 Health Risk Pathogenic Global developmental delay, Typical Joubert syndrome MRI findings
RS730882218 MGAT2 Health Risk Likely pathogenic MGAT2-congenital disorder of glycosylation, Abnormal glycosylation
RS730882219 GEMIN4 Health Risk Pathogenic/Likely pathogenic Microcephaly, Severe dystonia
RS730882220 FAM20C Health Risk Likely pathogenic Cortical dysplasia, Neonatal death
RS730882221 TCTN1 Health Risk Pathogenic Global developmental delay, Typical Joubert syndrome MRI findings
RS730882222 SLC13A5 Health Risk Likely pathogenic Global developmental delay, Seizure
RS730882224 PNKP Health Risk Likely pathogenic Global developmental delay, Primary microcephaly
RS730882225 NID1 Health Risk Likely pathogenic Focal epilepsy, Hemiparesis
RS730882226 INO80 Health Risk Likely pathogenic Primary microcephaly, Seizure
RS730882228 SPDL1 Health Risk Likely pathogenic Neonatal death, Severe primary microcephaly
RS730882229 PTPN23 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Seizure
RS730882230 FBN2 Health Risk Likely pathogenic Cerebral ischemia, Fetal akinesia deformation sequence 1
RS730882231 TMEM237 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome 14
RS730882233 EXOC4 Health Risk Likely pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS730882234 PTRH2 Health Risk Pathogenic Cerebellar ataxia, Global developmental delay
RS730882235 KLHL41 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 9, Nemaline myopathy
RS730882236 COG6 Health Risk Pathogenic/Likely pathogenic Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Hypohidrosis
RS730882237 B4GAT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS730882238 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome
RS730882240 PIGQ Health Risk Pathogenic Optic atrophy, Global developmental delay
RS730882241 ARV1 Health Risk Likely pathogenic Neurodegeneration, Blindness
RS730882242 DIAPH1 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Microcephaly
RS730882244 FAM177A1 Health Risk Likely pathogenic Mild obesity, Dolichocephaly
RS730882245 BLTP1 Health Risk Pathogenic 6 conditions, Alkuraya-Kucinskas syndrome
RS730882246 ISCA2 Health Risk Pathogenic/Likely pathogenic 8 conditions, Multiple mitochondrial dysfunctions syndrome 4
RS730882247 TMEM92 Health Risk Likely pathogenic Global developmental delay, Cerebellar atrophy
RS730882248 RNF216 Health Risk Likely pathogenic Leukodystrophy, Hypogonadotropic hypogonadism 7 with or without anosmia
RS730882249 AP4M1 Health Risk Pathogenic CNS hypomyelination, Brain atrophy
RS730882250 DPH1 Health Risk Pathogenic/Likely pathogenic Dandy-Walker syndrome, Global developmental delay
RS730882252 CALM1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 14, Long QT syndrome 14
RS730882253 CALM1 Health Risk Likely pathogenic Long QT syndrome 14, Long QT syndrome 14
RS730882254 CALM2 Health Risk Pathogenic Long QT syndrome 15, Long QT syndrome 1
RS730882255 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS730882256 ALS2 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS730882257 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS730882258 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS730882259 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS730882260 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS730882261 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
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